Q8NBL1 (PGLT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein O-glucosyltransferase 1
EC=2.4.1.-

Alternative name(s):
CAP10-like 46 kDa protein
Short name=hCLP46
KTEL motif-containing protein 1
Myelodysplastic syndromes relative protein

Gene names

Name:	POGLUT1
Synonyms:	C3orf9, CLP46, KTELC1, MDSRP
ORF Names:	MDS010, UNQ490/PRO1006

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	392 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	UDP-glucosyltransferase. Ref.10
Pathway	Protein modification; protein glycosylation.
Subcellular location	Endoplasmic reticulum lumen Ref.1.
Tissue specificity	Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Ref.1
Miscellaneous	Possess the ability of promoting cell proliferation (Ref.1).
Sequence similarities	Belongs to the glycosyltransferase 90 family.
Biophysicochemical properties	Kinetic parameters: KM=72 µM for UDP-Glc Ref.10 Vmax=7.6 pmol/min/µg enzyme

Ontologies

Keywords
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Polymorphism
Domain	Signal
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	Notch signaling pathway Traceable author statement. Source: Reactome cardiovascular system development Inferred from electronic annotation. Source: Compara protein O-linked glycosylation Inferred from direct assay PubMed 21949356. Source: MGI regulation of Notch signaling pathway Inferred from electronic annotation. Source: Compara
Cellular_component	endoplasmic reticulum lumen Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	UDP-glucosyltransferase activity Inferred from direct assay Ref.10. Source: UniProtKB UDP-xylosyltransferase activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Ref.9
	Chain	24 – 392	369	Protein O-glucosyltransferase 1		PRO_0000246685
Regions
	Motif	389 – 392	4	Prevents secretion from ER Potential
Amino acid modifications
	Glycosylation	40	1	N-linked (GlcNAc...) Potential
	Glycosylation	53	1	N-linked (GlcNAc...) Potential
	Glycosylation	204	1	N-linked (GlcNAc...) Potential
	Glycosylation	373	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	75	1	K → R. Ref.8 Corresponds to variant rs11556605 [ dbSNP | Ensembl ].		VAR_027041
	Natural variant	229	1	P → T. Ref.8 Corresponds to variant rs17852785 [ dbSNP | Ensembl ].		VAR_027042
Experimental info
	Sequence conflict	287	1	G → D in BAD96657. Ref.5
	Sequence conflict	371	1	S → P in BAD96657. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q8NBL1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 25B0370757A6B224	FASTA	392	46,189
	10 20 30 40 50 60 MEWWASSPLR LWLLLFLLPS AQGRQKESGS KWKVFIDQIN RSLENYEPCS SQNCSCYHGV 70 80 90 100 110 120 IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN DCMFPSRCSG VEHFILEVIG 130 140 150 160 170 180 RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG 190 200 210 220 230 240 LGRWDLFRED LVRSAAQWPW KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ 250 260 270 280 290 300 AWKSMKDTLG KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF 310 320 330 340 350 360 FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL QMDDITCYWE 370 380 390 NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, expression and characterization of a novel human CAP10-like gene hCLP46 from CD34+ stem/progenitor cells." Teng Y., Liu Q., Ma J., Liu F., Han Z., Wang Y., Wang W. Gene 371:7-15(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION. Tissue: Hematopoietic stem cell.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[5]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-75 AND THR-229. Tissue: Fetal brain and Hypothalamus.
[9]	"Signal peptide prediction based on analysis of experimentally verified cleavage sites." Zhang Z., Henzel W.J. Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 24-38.
[10]	"Universal phosphatase-coupled glycosyltransferase assay." Wu Z.L., Ethen C.M., Prather B., Machacek M., Jiang W. Glycobiology 21:727-733(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY298903 mRNA. Translation: AAP56253.1. AY358581 mRNA. Translation: AAQ88944.1. AK075444 mRNA. Translation: BAC11625.1. AK222937 mRNA. Translation: BAD96657.1. AK315367 mRNA. Translation: BAG37760.1. AC074271 Genomic DNA. No translation available. AC073352 Genomic DNA. No translation available. CH471052 Genomic DNA. Translation: EAW79570.1. BC030614 mRNA. Translation: AAH30614.1. BC048810 mRNA. Translation: AAH48810.1.
IPI	IPI00301163.
RefSeq	NP_689518.1. NM_152305.2.
UniGene	Hs.231750.
3D structure databases
ProteinModelPortal	Q8NBL1.
ModBase	Search...
Protein family/group databases
CAZy	GT90. Glycosyltransferase Family 90.
PTM databases
PhosphoSite	Q8NBL1.
Polymorphism databases
DMDM	74730148.
Proteomic databases
PaxDb	Q8NBL1.
PRIDE	Q8NBL1.
Protocols and materials databases
DNASU	56983.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295588; ENSP00000295588; ENSG00000163389.
GeneID	56983.
KEGG	hsa:56983.
UCSC	uc003ecm.3. human.
Organism-specific databases
CTD	56983.
GeneCards	GC03P119188.
HGNC	HGNC:22954. POGLUT1.
HPA	HPA037855.
neXtProt	NX_Q8NBL1.
PharmGKB	PA162393771.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG248922.
HOVERGEN	HBG069044.
InParanoid	Q8NBL1.
KO	K13667.
OMA	VEGRAWS.
OrthoDB	EOG4SN1P0.
PhylomeDB	Q8NBL1.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q8NBL1.
Bgee	Q8NBL1.
CleanEx	HS_KTELC1.
Genevestigator	Q8NBL1.
GermOnline	ENSG00000163389. Homo sapiens.
Family and domain databases
InterPro	IPR006598. LipoPS_modifying. [Graphical view]
Pfam	PF05686. Glyco_transf_90. 1 hit. [Graphical view]
SMART	SM00672. CAP10. 1 hit. [Graphical view]
PROSITE	PS00014. ER_TARGET. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	56983.
NextBio	62657.

Entry information

Entry name

PGLT1_HUMAN

Accession

Primary (citable) accession number: Q8NBL1
Secondary accession number(s): B2RD13, Q53GJ4, Q8N2T1

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	October 1, 2002
Last modified:	April 3, 2013
This is version 98 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.